Publication
| Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY, Familial dysautonomia is caused by mutations of the IKAP gene. Am J Hum Genet68(3):753-758 2001 |
| PubMed ID: 11179021 |
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| Records Return:
(4)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM05108 | Female | 35 YR | 816 | mother | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | GM |
| GM05106 | Female | 12 YR | 816 | sister | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | GM |
| GM05107 | Male | 41 YR | 816 | father | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | GM |
| GM05046 | Female | 51 YR | 810 | mother | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | GM |
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